What is the phenotypic effect of inserting a Ds element into the maize C gene? How do Ds and Ac produce maize kernels that are mostly yellow with purple spots?

Two different mutations are identified in a haploid strain of yeast. The first prevents the synthesis of adenine by a nonsense mutation of the ade-1 gene. In this mutation, a base-pair substitution changes a tryptophan codon (UGG) to a stop codon (UGA). The second affects one of several duplicate tRNA genes. This base-pair substitution mutation changes the anticodon sequence of a tRNAᵀʳᵖ from

   3′−ACC−5′ to 3′−ACU−5′

Do you consider the first mutation to be a forward mutation or a reversion? Why?

Two different mutations are identified in a haploid strain of yeast. The first prevents the synthesis of adenine by a nonsense mutation of the ade-1 gene. In this mutation, a base-pair substitution changes a tryptophan codon (UGG) to a stop codon (UGA). The second affects one of several duplicate tRNA genes. This base-pair substitution mutation changes the anticodon sequence of a tRNAᵀʳᵖ from

   3′−ACC−5′ to 3′−ACU−5′

Assuming there are no other mutations in the genome, will this double-mutant yeast strain be able to grow on minimal medium? If growth will occur, characterize the nature of growth relative to wild type.

Two different mutations are identified in a haploid strain of yeast. The first prevents the synthesis of adenine by a nonsense mutation of the ade-1 gene. In this mutation, a base-pair substitution changes a tryptophan codon (UGG) to a stop codon (UGA). The second affects one of several duplicate tRNA genes. This base-pair substitution mutation changes the anticodon sequence of a tRNAᵀʳᵖ from

   3′−ACC−5′ to 3′−ACU−5′

Do you consider the second mutation to be a forward mutation or a reversion? Why?

Why are frameshift mutations likely to be more detrimental than point mutations, in which a single pyrimidine or purine has been substituted?

If you were to look up Gaucher disease on the OMIM website, you would see that there are three major types, designated Type I (OMIM 230800), Type II (OMIM 230900), and Type III (OMIM 231000). All three types are mutations of the gene for acid-β-glucosidase, encoded on chromosome 1. Different mutations of this gene produce the three types of Gaucher disease that differ somewhat in their symptoms and disease severity.

Thinking about the production or function of the acid-β-glucosidase enzyme, why do you suppose different mutations of this gene produce differences in symptoms and disease severity?

If you were to look up Gaucher disease on the OMIM website, you would see that there are three major types, designated Type I (OMIM 230800), Type II (OMIM 230900), and Type III (OMIM 231000). All three types are mutations of the gene for acid-β-glucosidase, encoded on chromosome 1. Different mutations of this gene produce the three types of Gaucher disease that differ somewhat in their symptoms and disease severity.

For each mutation, speculate about whether the acid-β-glucosidase enzyme is merely reduced in function or whether its production is eliminated, and explain why.

Why are X rays more potent mutagens than UV radiation?

Total cholesterol in blood is reported as the number of milligrams (mg) of cholesterol per 100 milliliters (mL) of blood. The normal range is 180–220 mg/100 mL. A gene mutation altering the function of cell-surface cholesterol receptors restricts the ability of cells to collect cholesterol from blood and draw it into cells. This defect results in elevated blood cholesterol levels. Individuals who are heterozygous for a mutant allele and a wild-type allele have levels of 300–600 mg/100 mL, and those who are homozygous for the mutation have levels of 800–1000 mg/100 mL. Identify the genetic term that best describes the inheritance of this form of elevated cholesterol level, and justify your choice.